Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
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Descrição
In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Rubinstein-Taybi Syndrome
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Typcial facial features and broad thumbs of the patient. A) Note his
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Genes, Free Full-Text
PDF] Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
Facial features of Rubinstein-Taybi syndrome
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar - 2014 - British Journal of Dermatology - Wiley Online Library
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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